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Page 1
A duplication including GATA4 does not co-segregate with congenital heart defects.
Joziasse IC, van der Smagt JJ, Poot M, Hochstenbach R, Nelen MR, van Gijn M, Dooijes D, Mulder BJ, Doevendans PA. Joziasse IC, et al. Among authors: van der smagt jj, van gijn m. Am J Med Genet A. 2009 May;149A(5):1062-6. doi: 10.1002/ajmg.a.32769. Am J Med Genet A. 2009. PMID: 19353638 No abstract available.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria.
Cox MG, Nelen MR, Wilde AA, Wiesfeld AC, van der Smagt JJ, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN. Cox MG, et al. Among authors: van der smagt jj, van tintelen jp. J Cardiovasc Electrophysiol. 2008 Aug;19(8):775-81. doi: 10.1111/j.1540-8167.2008.01140.x. Epub 2008 Mar 26. J Cardiovasc Electrophysiol. 2008. PMID: 18373594
Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events.
Chaldoupi SM, Soedamah-Muthu SS, Regieli J, Werf Cv, Nelen M, van der Smagt JJ, Algra A, Hauer RN, Doevendans PA, Loh P. Chaldoupi SM, et al. Among authors: van der smagt jj. Eur J Cardiovasc Prev Rehabil. 2009 Oct;16(5):616-20. doi: 10.1097/HJR.0b013e32832da03a. Eur J Cardiovasc Prev Rehabil. 2009. PMID: 19494781
Dominant-negative ALK2 allele associates with congenital heart defects.
Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten Dijke P, Bakkers J. Smith KA, et al. Among authors: van der smagt jj, van dinther m. Circulation. 2009 Jun 23;119(24):3062-9. doi: 10.1161/CIRCULATIONAHA.108.843714. Epub 2009 Jun 8. Circulation. 2009. PMID: 19506109
New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Cox MG, van der Smagt JJ, Wilde AA, Wiesfeld AC, Atsma DE, Nelen MR, Rodriguez LM, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN. Cox MG, et al. Among authors: van der smagt jj, van tintelen jp. Circ Arrhythm Electrophysiol. 2009 Oct;2(5):524-30. doi: 10.1161/CIRCEP.108.832519. Epub 2009 Jul 7. Circ Arrhythm Electrophysiol. 2009. PMID: 19843920
Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
Cox MG, van der Smagt JJ, Noorman M, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, Houweling AC, Loh P, Jordaens L, Arens Y, Cramer MJ, Doevendans PA, van Tintelen JP, Wilde AA, Hauer RN. Cox MG, et al. Among authors: van langen im, van der smagt jj, van tintelen jp. Circ Arrhythm Electrophysiol. 2010 Apr;3(2):126-33. doi: 10.1161/CIRCEP.109.927202. Epub 2010 Mar 9. Circ Arrhythm Electrophysiol. 2010. PMID: 20215590
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Among authors: van t slot r, van der smagt jj. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF. Hoedemaekers YM, et al. Among authors: van der smagt jj. Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8. Circ Cardiovasc Genet. 2010. PMID: 20530761
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